Canonical Allele Identifier: CA506108341
Gene: PIK3R2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1915454
ClinVar RCV Id: RCV002601500
dbSNP Id: rs1468824581
gnomAD v2: 19-18266848-C-T
gnomAD v4: 19-18156038-C-T
MyVariant Identifiers: chr19:g.18266848C>T (hg19) chr19:g.18156038C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18156038C>T , CM000681.2:g.18156038C>T GRCh38
NC_000019.9:g.18266848C>T , CM000681.1:g.18266848C>T GRCh37
NC_000019.8:g.18127848C>T NCBI36
NG_033010.1:g.7861C>T
NG_033010.2:g.7861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222254.13:c.159C>T MANE Select ENSP00000222254.6:p.Ser53=
ENST00000617130.5:c.159C>T ENSP00000477864.2:p.Ser53=
ENST00000617642.2:c.159C>T ENSP00000484714.2:p.Ser53=
ENST00000222254.12:c.159C>T ENSP00000222254.6:p.Ser53=
ENST00000426902.5:c.159C>T ENSP00000395636.1:p.Ser53=
ENST00000593731.1:c.159C>T ENSP00000471914.1:p.Ser53=
ENST00000617130.4:c.159C>T ENSP00000477864.1:p.Ser53=
ENST00000617642.1:c.159C>T ENSP00000484714.1:p.Ser53=
NM_005027.3:c.159C>T NP_005018.1:p.Ser53=
NR_073517.1:n.699C>T
NM_005027.4:c.159C>T MANE Select NP_005018.2:p.Ser53=
NR_073517.2:n.714C>T
NR_162071.1:n.714C>T
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